Affordable Access

deepdyve-link
Publisher Website

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

Authors
  • Ferrarini, Alessandra
  • Gaillard, Muriel
  • Guerry, Frederic
  • Ramelli, Gianpaolo
  • Heidi, Fodstad
  • Keddache, Caroline Verley
  • Wieland, Ilse
  • Beckmann, Jacques S
  • Jaquemont, Sébastien
  • Martinet, Danielle
Type
Published Article
Journal
American Journal of Medical Genetics Part A
Publisher
Wiley (John Wiley & Sons)
Publication Date
Feb 01, 2014
Volume
164A
Issue
2
Pages
346–352
Identifiers
DOI: 10.1002/ajmg.a.36140
PMID: 24376213
Source
Medline
Keywords
License
Unknown

Abstract

Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. We here report on a female patient presenting with severe FND features along with partial alopecia, hypogonadism and intellectual disability. While molecular investigations did not reveal mutations in any of the known genes, ALX4, ALX3, ALX1 and EFNB1, comparative genomic hybridization (array CGH) techniques showed a large heterozygous de novo deletion at 11p11.12p12, encompassing the ALX4 gene. Deletions in this region have been described in patients with Potocki-Shaffer syndrome (PSS), characterized by biparietal foramina, multiple exostoses, and intellectual disability. Although the patient reported herein manifests some overlapping features of FND and PPS, it is likely that the observed phenotype maybe due to a second unidentified mutation in the ALX4 gene. The phenotype will be discussed in view of the deleted region encompassing the ALX4 gene.

Report this publication

Statistics

Seen <100 times